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Aliases for TBC1D20 Gene

Aliases for TBC1D20 Gene

  • TBC1 Domain Family, Member 20 2 3
  • C20orf140 3 4 6
  • WARBM4 3 6
  • Chromosome 20 Open Reading Frame 140 2
  • TBC1 Domain Family Member 20 3

External Ids for TBC1D20 Gene

Previous Symbols for TBC1D20 Gene

  • C20orf140

Summaries for TBC1D20 Gene

Entrez Gene Summary for TBC1D20 Gene

  • This gene encodes a protein that belongs to a family of GTPase activator proteins of Rab-like small GTPases. The encoded protein and its cognate GTPase, Rab1, bind the nonstructural protein 5A (NS5A) of the hepatitis C virus (HCV) to mediate viral replication. Depletion of this protein inhibits replication of the virus and HCV infection. Mutations in this gene are associated with Warburg micro syndrome 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]

GeneCards Summary for TBC1D20 Gene

TBC1D20 (TBC1 Domain Family, Member 20) is a Protein Coding gene. Diseases associated with TBC1D20 include warburg micro syndrome 4 and hepatitis c virus.

UniProtKB/Swiss-Prot for TBC1D20 Gene

  • GTPase-activating protein specific for Rab1 and Rab2 small GTPase families for which it can accelerate the intrinsic GTP hydrolysis rate by more than five orders of magnitude

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TBC1D20 Gene

Genomics for TBC1D20 Gene

Genomic Location for TBC1D20 Gene

Start:
435,480 bp from pter
End:
462,553 bp from pter
Size:
27,074 bases
Orientation:
Minus strand

Genomic View for TBC1D20 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TBC1D20 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TBC1D20 Gene

Regulatory Elements for TBC1D20 Gene

Proteins for TBC1D20 Gene

  • Protein details for TBC1D20 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96BZ9-TBC20_HUMAN
    Recommended name:
    TBC1 domain family member 20
    Protein Accession:
    Q96BZ9
    Secondary Accessions:
    • A8K6I3
    • B9A6M1
    • Q5JWQ7
    • Q6ZSY8
    • Q96NE1
    • Q9BYM7
    • Q9H140

    Protein attributes for TBC1D20 Gene

    Size:
    403 amino acids
    Molecular mass:
    45855 Da
    Quaternary structure:
    • Directly interacts with the N-terminal amphipathic helix of hepatitis C virus (HCV) NS5A.

    Three dimensional structures from OCA and Proteopedia for TBC1D20 Gene

    Alternative splice isoforms for TBC1D20 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TBC1D20 Gene

Proteomics data for TBC1D20 Gene at MOPED

Post-translational modifications for TBC1D20 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TBC1D20 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TBC1D20 Gene

Domains for TBC1D20 Gene

Protein Domains for TBC1D20 Gene

InterPro:
Blocks:
ProtoNet:

UniProtKB/Swiss-Prot:

TBC20_HUMAN
Domain:
  • The arginine and glutamine fingers are critical for the GTPase-activating mechanism, they pull out Rabs switch 2 glutamine and insert in Rabs active site.:
    • Q96BZ9
  • Contains 1 Rab-GAP TBC domain.:
    • Q96BZ9
genes like me logo Genes that share domains with TBC1D20: view

No data available for Gene Families for TBC1D20 Gene

Function for TBC1D20 Gene

Molecular function for TBC1D20 Gene

UniProtKB/Swiss-Prot Function: GTPase-activating protein specific for Rab1 and Rab2 small GTPase families for which it can accelerate the intrinsic GTP hydrolysis rate by more than five orders of magnitude

Gene Ontology (GO) - Molecular Function for TBC1D20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IDA 17684057
GO:0005515 protein binding IPI 17684057
GO:0017137 Rab GTPase binding IPI 17684057
genes like me logo Genes that share ontologies with TBC1D20: view
genes like me logo Genes that share phenotypes with TBC1D20: view

miRNA for TBC1D20 Gene

miRTarBase miRNAs that target TBC1D20

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for TBC1D20 Gene

Localization for TBC1D20 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TBC1D20 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TBC1D20 Gene COMPARTMENTS Subcellular localization image for TBC1D20 gene
Compartment Confidence
plasma membrane 3
cytosol 1
endoplasmic reticulum 1
golgi apparatus 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for TBC1D20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA 22491470
GO:0005789 endoplasmic reticulum membrane IDA 17684057
GO:0030173 integral component of Golgi membrane IDA 17684057
GO:0031965 nuclear membrane IDA 17684057
genes like me logo Genes that share ontologies with TBC1D20: view

Pathways for TBC1D20 Gene

SuperPathways for TBC1D20 Gene

No Data Available

Interacting Proteins for TBC1D20 Gene

Gene Ontology (GO) - Biological Process for TBC1D20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001675 acrosome assembly IEA --
GO:0002088 lens development in camera-type eye --
GO:0006888 ER to Golgi vesicle-mediated transport IMP 21680502
GO:0007030 Golgi organization IMP 17684057
GO:0007283 spermatogenesis --
genes like me logo Genes that share ontologies with TBC1D20: view

No data available for Pathways by source for TBC1D20 Gene

Transcripts for TBC1D20 Gene

Unigene Clusters for TBC1D20 Gene

TBC1 domain family, member 20:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TBC1D20 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b · 6c · 6d ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b · 9c ^ 10 ^ 11
SP1: - - - - -
SP2: - - -
SP3: - -
SP4: - - -
SP5: -
SP6:
SP7: - - -
SP8: -
SP9:
SP10:

Relevant External Links for TBC1D20 Gene

GeneLoc Exon Structure for
TBC1D20
ECgene alternative splicing isoforms for
TBC1D20

Expression for TBC1D20 Gene

mRNA expression in normal human tissues for TBC1D20 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for TBC1D20 Gene

SOURCE GeneReport for Unigene cluster for TBC1D20 Gene Hs.590876

genes like me logo Genes that share expressions with TBC1D20: view

Orthologs for TBC1D20 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for TBC1D20 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TBC1D20 36
  • 99.01 (n)
  • 99.01 (a)
TBC1D20 37
  • 93 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TBC1D20 36
  • 92.72 (n)
  • 97.27 (a)
TBC1D20 37
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TBC1D20 36
  • 92.8 (n)
  • 95.04 (a)
TBC1D20 37
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tbc1d20 36
  • 89.3 (n)
  • 93.28 (a)
Tbc1d20 16
Tbc1d20 37
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TBC1D20 37
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 35 (a)
OneToMany
-- 37
  • 57 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Tbc1d20 36
  • 88.89 (n)
  • 93.53 (a)
chicken
(Gallus gallus)
Aves TBC1D20 36
  • 80.38 (n)
  • 90.57 (a)
TBC1D20 37
  • 91 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TBC1D20 37
  • 87 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia MGC52691 36
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.10618 36
tbc1d20.1 36
  • 73.89 (n)
  • 79.9 (a)
zebrafish
(Danio rerio)
Actinopterygii tbc1d20 36
  • 70.61 (n)
  • 76.05 (a)
tbc1d20 37
  • 75 (a)
OneToOne
zgc63863 36
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008312 36
  • 54.2 (n)
  • 45.58 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG17883 36
  • 49.88 (n)
  • 45.74 (a)
CG17883 37
  • 35 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea tbc-20 36
  • 49.6 (n)
  • 40.14 (a)
tbc-20 37
  • 28 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GYP8 37
  • 16 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU05272 36
  • 44.1 (n)
  • 35.77 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes gyp10 36
  • 41.7 (n)
  • 32.82 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 46 (a)
OneToOne
Species with no ortholog for TBC1D20:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TBC1D20 Gene

ENSEMBL:
Gene Tree for TBC1D20 (if available)
TreeFam:
Gene Tree for TBC1D20 (if available)

Paralogs for TBC1D20 Gene

No data available for Paralogs for TBC1D20 Gene

Variants for TBC1D20 Gene

Sequence variations from dbSNP and Humsavar for TBC1D20 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type MAF
rs6695 -- 435,505(+) caaac(A/G)ttatt utr-variant-3-prime, nc-transcript-variant
rs150207 -- 459,799(+) CACTT(C/T)ATCTG intron-variant
rs157795 -- 458,461(+) GACAA(A/G)CTCCA intron-variant
rs157796 -- 460,464(+) AACTC(C/G)ACGTC intron-variant
rs157797 -- 461,103(+) CAAAA(C/T)ATGTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TBC1D20 Gene

Variant ID Type Subtype PubMed ID
nsv458842 CNV Loss 19166990
dgv4509n71 CNV Gain 21882294
nsv912568 CNV Gain 21882294
nsv9774 CNV Gain 18304495
nsv469833 CNV Gain 16826518
esv2535181 CNV Deletion 19546169
esv2677224 CNV Deletion 23128226
esv1050414 CNV Deletion 17803354

Relevant External Links for TBC1D20 Gene

HapMap Linkage Disequilibrium report
TBC1D20
Human Gene Mutation Database (HGMD)
TBC1D20

Disorders for TBC1D20 Gene

(1) OMIM Diseases for TBC1D20 Gene (611663)

UniProtKB/Swiss-Prot

TBC20_HUMAN
  • Warburg micro syndrome 4 (WARBM4) [MIM:615663]: A form of Warburg micro syndrome, a rare syndrome characterized by microcephaly, microphthalmia, microcornia, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism. {ECO:0000269 PubMed:24239381}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TBC1D20

Genetic Association Database (GAD)
TBC1D20
genes like me logo Genes that share disorders with TBC1D20: view

Publications for TBC1D20 Gene

  1. A Rab-GAP TBC domain protein binds hepatitis C virus NS5A and mediates viral replication. (PMID: 17686842) Sklan E.H. … Glenn J.S. (J. Virol. 2007) 3 4
  2. TBC1D20 is a Rab1 GTPase-activating protein that mediates hepatitis C virus replication. (PMID: 17901050) Sklan E.H. … Glenn J.S. (J. Biol. Chem. 2007) 2 3
  3. Identification and characterization of a novel Tre-2/Bub2/Cdc16 (TBC) protein that possesses Rab3A-GAP activity. (PMID: 19077034) Ishibashi K. … Fukuda M. (Genes Cells 2009) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for TBC1D20 Gene

Sources for TBC1D20 Gene

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